ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation disease BEFREE Here, we demonstrate a novel role for lysosomal exocytosis in clearing intracellular α-syn and show that impairment of this pathway by mutations in the PD-linked gene ATP13A2/PARK9 contributes to α-syn accumulation in human dopaminergic neurons. 31097622 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease BEFREE These variants included loss of function and missense changes in 18 genes that were never previously linked to PD (NOTCH4, BCOR, ITM2B, HRH4, CELSR1, SNAP91, FAM174A, BSN, SPG7, MAGI2, HEPHL1, EPRS, PUM1, CLSTN1, PLCB3, CLSTN3, DNAJB9 and NEFH) and 2 genes that were previously associated with PD (EIF4G1 and ATP13A2). 30833663 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation disease BEFREE Mutations in ATP13A2 cause Kufor-Rakeb syndrome (KRS), a juvenile form of Parkinson's disease (PD) with dementia. 31393918 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation disease BEFREE Mutations in the ATP13A2 gene (PARK9, CLN12, OMIM 610513) were initially associated with a form of Parkinson's Disease (PD) known as Kufor Rakeb Syndrome (KRS). 31132336 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease BEFREE This suggests that pink1, atp13a2 and uchl1 expressions are regulated by inflammation, and this regulatory mechanism might be involved in the progress of PD. 31201839 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation disease BEFREE Loss of function mutations in the gene ATP13A2 are associated with Kufor-Rakeb Syndrome and Neuronal Ceroid Lipofuscinosis, the former designated as an inherited form of Parkinson's disease (PD). 29407413 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease BEFREE At least some P5B isoforms are of vital importance for the nervous system, since ATP13A2 and ATP13A4 are linked to respectively Parkinson disease and autism spectrum disorders. 29505581 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation disease BEFREE Furthermore, recent data suggests that heterozygous carriers of mutations in ATP13A2 may confer risk for the development of Parkinson's disease, similar to the association of mutations in glucocerebrosidase (GBA) with both Parkinson's disease and Gaucher's disease, a lysosomal storage disorder. 29859891 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation disease BEFREE ATP13A2 mutations are rare cause of autosomal recessive juvenile-onset Parkinson disease. 29903538 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease BEFREE The P-type ATPase ATP13A2 protein was originally associated with a form of Parkinson's Disease (PD) known as Kufor Rakeb Syndrome (KRS). 29169913 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation disease BEFREE Loss-of-function mutations in ATP13A2 result in the Kufor-Rakeb Syndrome (KRS), a form of autosomal Parkinson's disease (PD). 28334751 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease BEFREE To date, a total of 7 genes including SNCA, LRRK2, PARK2, DJ-1, PINK 1, VPS35 and ATP13A2 have been seen to cause unequivocally Mendelian PD. 28541025 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease BEFREE Genes encoding lysosomal proteins, such as ATP13A2 and GBA, are associated with familial Parkinson's disease (PD). 28894968 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). 28137957 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease BEFREE Our data suggested that TXNIP blocked autophagic flux and induced α-synuclein accumulation through inhibition of ATP13A2, indicating TXNIP was a disease-causing protein in PD. 28755477 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation disease BEFREE Until now, fourteen mutations in ATP13A2 have been associated with KRS, while other mutations have been reported in association with neuronal ceroid lipofuscinosis (NCL) and early-onset PD. 26965689 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation disease BEFREE In the remaining cases, next generation sequencing was carried out revealing variants in a number of other known complex spastic paraplegia genes, including five in SPG7 (5/97), four in FA2H (also known as SPG35) (4/97) and two in ZFYVE26/SPG15 Variants were identified in genes usually associated with pure spastic paraplegia and also in the Parkinson's disease-associated gene ATP13A2, neuronal ceroid lipofuscinosis gene TPP1 and the hereditary motor and sensory neuropathy DNMT1 gene, highlighting the genetic heterogeneity of spastic paraplegia. 27217339 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation disease BEFREE The ATP13A2 A746T variant is rare in Han Chinese patients and controls and is not associated with PD susceptibility in this ethnic group. 26000924 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease BEFREE This constitutes a heretofore unrecognized process associated with loss of ATP13A2 function that could have wide-ranging implications for it as a therapeutic target for PD and other related conditions. 26818499 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease BEFREE Thus, we propose that ATP13A2 and SYT11 form a new functional network in the regulation of the autophagy-lysosome pathway, which is likely to contribute to forms of PD-associated neurodegeneration. 27278822 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease BEFREE Thus, the N-terminal binding of PA and PI(3,5)P2 emerges as a key to unlock the activity of ATP13A2, which may offer a therapeutic strategy to activate ATP13A2 and thereby reduce α-synuclein toxicity or mitochondrial stress in PD or related disorders. 26134396 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease BEFREE These discoveries provide a new understanding of the role that ATP13A2 plays in the development of PD and identify a therapeutic target that may ameliorate α-synuclein accumulation and lysosomal and mitochondrial dysfunction in Parkinson's disease. 25900096 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker disease BEFREE Collectively, our data demonstrate a distinct lack of ATP13A2-mediated protection against α-synuclein-induced neurotoxicity in the rat nigrostriatal dopaminergic pathway, and limited neuroprotective capacity overall, and raise doubts about the potential of ATP13A2 as a therapeutic target for PD. 25461191 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation disease BEFREE This study explored the mutations at the Thr12Met and Ala1144Thr gene loci of the ATP13A2 gene in Parkinson's disease patients in the Uygur and Han populations in the Xinjiang province. 25374329 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 AlteredExpression disease BEFREE We identified that elevated alpha-synuclein messenger RNA levels in SN DA neurons of human PD brains were positively correlated with corresponding elevated levels of mRNAs for functional compensation of progressive SN DA loss and for enhanced proteasomal (PARK5/UCHL1) and lysosomal (PARK9/ATPase13A2) function, possibly counteracting alpha-synuclein toxicity. 24742361 2014